ARMS2 rs11568814: Understanding the 10q26 Risk Locus
The rs11568814 variant is a single-nucleotide polymorphism located in the promoter region of the ARMS2 gene on chromosome 10. It is frequently studied alongside other variants in the 10q26 locus due to its statistical association with susceptibility to age-related macular degeneration (AMD).
What each genotype means
Typical AMD risk profile
You carry two copies of the common C allele for this upstream ARMS2 promoter variant. In genetic association studies, this genotype is not linked to increased susceptibility to age-related macular degeneration (AMD) at the 10q26 locus. Overall risk remains largely influenced by general age, lifestyle factors, and other susceptibility loci.
Carried by approximately 50% to 60% of individuals of European descent, and less frequently in East Asian populations.
Modestly increased AMD susceptibility
You carry one copy of the T risk allele for rs11568814, which resides within an extended linkage disequilibrium block encompassing ARMS2 and HTRA1. Large genomic studies observe that carrying this risk haplotype is associated with a modest increase in the relative odds of developing age-related macular degeneration. Because evidence specifically delineating this marker from adjacent variants is limited, this represents a statistical risk factor rather than a direct diagnosis.
Carried by roughly 35% to 40% of people of European ancestry and approximately 40% to 50% of individuals in East Asian cohorts.
Elevated AMD susceptibility
You have two copies of the T risk allele at rs11568814, tagging the high-risk 10q26 ARMS2/HTRA1 haplotype. In clinical research cohorts, carrying homozygous risk alleles at this locus is strongly associated with an increased susceptibility to advanced age-related macular degeneration, particularly neovascular forms. Having this genotype does not guarantee vision loss, as non-genetic factors like smoking, diet, and age significantly influence disease onset.
Carried by roughly 4% to 9% of individuals of European descent, but found in up to 15% to 20% of East Asian populations.
What is rs11568814?
The rs11568814 variant is a specific genetic change located in the upstream promoter region of the ARMS2 gene. In genetics, a promoter region is a segment of DNA that helps control when and how much of a gene's instructions are turned into protein. This variant sits within a dense cluster of genetic markers on chromosome 10q26. Because this region contains multiple genes, including ARMS2 and the nearby HTRA1, it is often referred to as the 10q26 risk locus. The variant is part of a larger block of DNA that is inherited together, a phenomenon known as linkage disequilibrium. This makes it challenging for researchers to determine if rs11568814 itself is the direct cause of biological changes or if it is simply a marker that is physically close to the actual functional variant responsible for disease risk.
The Role of the ARMS2 Gene
The ARMS2 gene, also known as age-related maculopathy susceptibility 2, provides instructions for creating a protein that is primarily found in the retina and the choroid, which are critical structures for vision in the back of the eye. While the exact function of the ARMS2 protein remains a subject of ongoing scientific investigation, some research suggests it may be a component of the extracellular matrix, a network of molecules that provides structural support to cells. Interestingly, some studies have questioned whether the protein is expressed at detectable levels in human ocular tissues, leading to debate about whether the disease risk associated with this locus is driven by the ARMS2 protein itself, by the nearby HTRA1 gene, or by regulatory changes that affect how these genes are expressed in the eye.
Research and AMD Association
The 10q26 region is widely recognized as one of the most significant genetic contributors to age-related macular degeneration (AMD). Numerous genome-wide association studies have identified variants in this locus that correlate with an increased risk of developing both the 'wet' (neovascular) and 'dry' (geographic atrophy) forms of the disease. The evidence for the association between the 10q26 locus and AMD is strong, but the specific contribution of individual SNPs like rs11568814 is considered limited or indirect. Because this variant is in high linkage disequilibrium with other, more frequently studied variants in the same region, it is often viewed as a tag for the broader risk haplotype. Researchers continue to use fine-mapping techniques to isolate which specific genetic changes within this 4-kilobase region are the primary drivers of AMD pathology.
Population Frequency
The rs11568814 variant is relatively common in human populations. Data from large-scale genomic databases indicate that the minor allele frequency for this variant typically ranges between 0.20 and 0.30 in individuals of European ancestry. This means that a significant portion of the population carries at least one copy of this allele. Because allele frequencies can vary significantly based on geographic and ancestral background, these statistics are most representative of European cohorts. Understanding these frequencies is essential for researchers to distinguish between common genetic variation and rare mutations that might have a more direct impact on health.
Interpreting Your Genetic Information
If you have received information about your genotype for rs11568814, it is important to understand that this is a statistical association, not a medical diagnosis. Genetic risk factors for complex conditions like AMD are only one piece of a much larger puzzle that includes age, smoking status, diet, and other environmental factors. Having a risk-associated genotype does not guarantee that an individual will develop a condition, nor does the absence of one guarantee protection. This information should not be used to make personal health decisions or to predict future health outcomes in isolation. If you are concerned about your eye health or your risk for macular degeneration, the most appropriate step is to consult with an ophthalmologist or a genetic counselor who can provide a comprehensive assessment based on your personal and family medical history.
How common is this variant?
The minor allele frequency for rs11568814 is approximately 0.20 to 0.30 in European populations, making it a common variant.
Frequently asked questions
Does having the rs11568814 variant mean I will get AMD?
No. Genetic variants like rs11568814 are associated with an increased statistical risk, but they do not cause the disease on their own. Many other factors, including age and lifestyle, play a much larger role in the development of AMD.
Is rs11568814 the same as the ARMS2 A69S variant?
No, they are different variants. However, they are located in the same region of the genome and are often inherited together as part of the same risk haplotype, which is why they are frequently discussed in the same research context.
Should I get tested for this variant?
Genetic testing for common variants like rs11568814 is generally not recommended for the general population. Because AMD is a complex condition, a single genetic test cannot provide a meaningful prediction of your personal risk.
What can I do if I have a high-risk genotype?
The best approach is to focus on modifiable risk factors, such as maintaining a healthy diet, avoiding smoking, and scheduling regular comprehensive eye exams with an eye care professional. Always discuss your specific concerns with your doctor.
Sources & further reading
Educational information only, last refreshed 9/14/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant is a well-established genetic risk factor associated with an increased susceptibility to age-related macular degeneration.
This SNP is highly associated with age-related macular degeneration (AMD) and is part of the complex 10q26 genetic risk locus.
A key, well-verified risk variant for advanced age-related macular degeneration (AMD).
ARMS2 A69S is a major risk variant for age-related macular degeneration.